Exon 7 of the l’henylalan1ne hydroxylase (PAH) gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla (PKU) from northern Chlna by uslng PCRxsingle strand conformation polymorphism(PCR-SSCP) technique...Exon 7 of the l’henylalan1ne hydroxylase (PAH) gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla (PKU) from northern Chlna by uslng PCRxsingle strand conformation polymorphism(PCR-SSCP) technique and DNA direct sequencing. Six missense mutatlons (l. e. R2413Q. R 241H, G247V,1,2 19H, F2541;lnd G257V )and one silent rnutatlon (V245v ) were identified. The latter three missense mu-tations were demonstrated as novel mltations in comparison with the PAH mutation database. one missense mt1tation (R241 H) was flrst dowumeTlted in Chinese. our results showed populatlon ancl reglon tllffer-ences in the PAH mutation clistribution. and suggest that there is more thfln one founding population forPKU in China. The fincling of novel mutations will enhence the molecular diagnosis of PKU.展开更多
神经母细胞瘤(NB)是儿童时期常见的恶性肿瘤之一。发病隐匿,致使70%的病例在临床被发现时已为时过晚,丧失治疗良机。因此,对 NB 的早期发现颇为关键。NB 和正常交感神经细胞一样,摄取血中酪氨酸并生成儿茶酚胺(CA)。CA 最终代谢产物—...神经母细胞瘤(NB)是儿童时期常见的恶性肿瘤之一。发病隐匿,致使70%的病例在临床被发现时已为时过晚,丧失治疗良机。因此,对 NB 的早期发现颇为关键。NB 和正常交感神经细胞一样,摄取血中酪氨酸并生成儿茶酚胺(CA)。CA 最终代谢产物—香草扁桃酸(VMA)、高香草酸(HVA)、香草乳酸(VLA)均排泄于尿中。在正常人尿中含量极少,而在 NB 病人尿中明显升高。双向纸层析法可检测病人尿中三种代谢产物的存在,对 NB 的早期诊断具有重要意义。展开更多
文摘Exon 7 of the l’henylalan1ne hydroxylase (PAH) gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla (PKU) from northern Chlna by uslng PCRxsingle strand conformation polymorphism(PCR-SSCP) technique and DNA direct sequencing. Six missense mutatlons (l. e. R2413Q. R 241H, G247V,1,2 19H, F2541;lnd G257V )and one silent rnutatlon (V245v ) were identified. The latter three missense mu-tations were demonstrated as novel mltations in comparison with the PAH mutation database. one missense mt1tation (R241 H) was flrst dowumeTlted in Chinese. our results showed populatlon ancl reglon tllffer-ences in the PAH mutation clistribution. and suggest that there is more thfln one founding population forPKU in China. The fincling of novel mutations will enhence the molecular diagnosis of PKU.
文摘神经母细胞瘤(NB)是儿童时期常见的恶性肿瘤之一。发病隐匿,致使70%的病例在临床被发现时已为时过晚,丧失治疗良机。因此,对 NB 的早期发现颇为关键。NB 和正常交感神经细胞一样,摄取血中酪氨酸并生成儿茶酚胺(CA)。CA 最终代谢产物—香草扁桃酸(VMA)、高香草酸(HVA)、香草乳酸(VLA)均排泄于尿中。在正常人尿中含量极少,而在 NB 病人尿中明显升高。双向纸层析法可检测病人尿中三种代谢产物的存在,对 NB 的早期诊断具有重要意义。
